Canonical Allele Identifier: CA1963422240

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916519_34916522delinsTTGG , CM000673.2:g.34916519_34916522delinsTTGG	GRCh38
NC_000011.9:g.34938066_34938069delinsTTGG , CM000673.1:g.34938066_34938069delinsTTGG	GRCh37
NC_000011.8:g.34894642_34894645delinsTTGG	NCBI36
NG_013368.1:g.5390_5393delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+33_-21+36delinsTTGG	ENSP00000389404.3:n.-21+33_-21+36delinsTTGG
ENST00000448838.7:c.115+33_115+36delinsTTGG	ENSP00000389404.2:n.115+33_115+36delinsTTGG
ENST00000533550.5:c.-21+581_-21+584delinsTTGG	ENSP00000431281.1:n.-21+581_-21+584delinsTTGG
NM_001135024.1:c.115+33_115+36delinsTTGG	NP_001128496.1:n.115+33_115+36delinsTTGG
NM_001166158.1:c.-137_-134delinsTTGG	NP_001159630.1:n.-137_-134delinsTTGG
NM_003477.2:c.-137_-134delinsTTGG	NP_003468.2:n.-137_-134delinsTTGG
XM_011520390.1:c.-21+581_-21+584delinsTTGG	XP_011518692.1:n.-21+581_-21+584delinsTTGG
NM_001135024.2:c.-21+33_-21+36delinsTTGG	NP_001128496.2:n.-21+33_-21+36delinsTTGG